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Article

The DeltaF508 mutation results in loss of CFTR function and mature protein in native human colon.

Gastroenterology - 1 Jan 2004

Mall Marcus, Kreda Silvia M, Mengos April, Jensen Timothy J, Hirtz Stephanie, Seydewitz Hans H, Yankaskas James, Kunzelmann Karl, Riordan John R, Boucher Richard C

Abstract excerpt

BACKGROUND AND AIMS: Deletion of the codon for phenylalanine at position 508 (DeltaF508) is the most frequent disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In heterologous cells, defective processing of the DeltaF508 protein results in endoplasmi...

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Source

Identifiers

PMID: 14699484
DOI: 10.1053/j.gastro.2003.10.049

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14699484-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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The DeltaF508 mutation results in loss of CFTR function and mature protein in native human colon.PMID 14699484Read ↗

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